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UniProtKB - Q00604 (NDP_HUMAN)

Entry version 179 (12 Aug 2020)
Sequence version 1 (01 Jun 1994)
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Protein

Norrin

Gene

NDP

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Activates the canonical Wnt signaling pathway through FZD4 and LRP5 coreceptor. Plays a central role in retinal vascularization by acting as a ligand for FZD4 that signals via stabilizing beta-catenin (CTNNB1) and activating LEF/TCF-mediated transcriptional programs. Acts in concert with TSPAN12 to activate FZD4 independently of the Wnt-dependent activation of FZD4, suggesting the existence of a Wnt-independent signaling that also promote accumulation the beta-catenin (CTNNB1). May be involved in a pathway that regulates neural cell differentiation and proliferation. Possible role in neuroectodermal cell-cell interaction.

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Biological processSensory transduction, Vision, Wnt signaling pathway

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q00604

SIGNOR Signaling Network Open Resource

More...SIGNORi		Q00604

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Norrin
Alternative name(s):
Norrie disease protein
X-linked exudative vitreoretinopathy 2 protein
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:NDP
Synonyms:EVR2
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome X

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000124479.8

Human Gene Nomenclature Database

More...HGNCi		HGNC:7678, NDP

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		300658, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q00604

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Secreted

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Norrie disease (ND)28 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionRecessive disorder characterized by very early childhood blindness due to degenerative and proliferative changes of the neuroretina. Approximately 50% of patients show some form of progressive mental disorder, often with psychotic features, and about one-third of patients develop sensorineural deafness in the second decade. In addition, some patients have more complex phenotypes, including growth failure and seizure.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_00547813L → R in ND. 1 PublicationCorresponds to variant dbSNP:rs104894879EnsemblClinVar.1
Natural variantiVAR_01604816L → P in ND. 1 Publication1
Natural variantiVAR_06399938R → C in ND and EVR2. 2 PublicationsCorresponds to variant dbSNP:rs758550101Ensembl.1
Natural variantiVAR_00547939C → R in ND. 2 Publications1
Natural variantiVAR_06400143H → Q in ND. 1 Publication1
Natural variantiVAR_06400243H → R in ND. 1 Publication1
Natural variantiVAR_00548244Y → C in ND. 2 PublicationsCorresponds to variant dbSNP:rs104894870EnsemblClinVar.1
Natural variantiVAR_06400345V → E in ND. 1 PublicationCorresponds to variant dbSNP:rs137852221EnsemblClinVar.1
Natural variantiVAR_06400445V → M in ND. 1 Publication1
Natural variantiVAR_06400655C → R in ND. 1 Publication1
Natural variantiVAR_00548358K → N in ND and EVR2. 2 Publications1
Natural variantiVAR_00548460V → E in ND; reduction of protein amount in the extracellular matrix. 2 PublicationsCorresponds to variant dbSNP:rs104894869EnsemblClinVar.1
Natural variantiVAR_00548561L → F in ND. 2 PublicationsCorresponds to variant dbSNP:rs104894880EnsemblClinVar.1
Natural variantiVAR_00548661L → P in ND. 1 Publication1
Natural variantiVAR_00548763A → D in ND. 1 Publication1
Natural variantiVAR_00549065C → W in ND. 1 Publication1
Natural variantiVAR_00548865C → Y in ND. 2 PublicationsCorresponds to variant dbSNP:rs1369490553Ensembl.1
Natural variantiVAR_06400867G → E in ND. 1 PublicationCorresponds to variant dbSNP:rs1460859456Ensembl.1
Natural variantiVAR_06400967G → R in ND. 1 Publication1
Natural variantiVAR_00548969C → S in ND. 1 PublicationCorresponds to variant dbSNP:rs104894872EnsemblClinVar.1
Natural variantiVAR_00549174R → C in ND. 3 PublicationsCorresponds to variant dbSNP:rs727504031EnsemblClinVar.1
Natural variantiVAR_00549275S → C in ND. 1 PublicationCorresponds to variant dbSNP:rs104894868EnsemblClinVar.1
Natural variantiVAR_01604975S → P in ND. 1 Publication1
Natural variantiVAR_06401089F → L in ND. 1 PublicationCorresponds to variant dbSNP:rs1057520333EnsemblClinVar.1
Natural variantiVAR_06401190R → C in ND. 1 PublicationCorresponds to variant dbSNP:rs1057518793EnsemblClinVar.1
Natural variantiVAR_00549490R → P in ND. 1 PublicationCorresponds to variant dbSNP:rs104894867EnsemblClinVar.1
Natural variantiVAR_06401292S → P in ND. 1 Publication1
Natural variantiVAR_00549594 – 96HCC → QCGL in ND. 3
Natural variantiVAR_06401395C → F in ND. 1 Publication1
Natural variantiVAR_06401495C → R in ND. 1 Publication1
Natural variantiVAR_00927596C → W in ND. 1 PublicationCorresponds to variant dbSNP:rs104894877EnsemblClinVar.1
Natural variantiVAR_00549696C → Y in ND. 3 PublicationsCorresponds to variant dbSNP:rs104894871EnsemblClinVar.1
Natural variantiVAR_06401597R → P in ND. 1 Publication1
Natural variantiVAR_06401698P → L in ND. 1 Publication1
Natural variantiVAR_005497101S → F in ND. 1 PublicationCorresponds to variant dbSNP:rs104894883EnsemblClinVar.1
Natural variantiVAR_064018104K → N in ND. 1 Publication1
Natural variantiVAR_005498104K → Q in ND. 1 Publication1
Natural variantiVAR_016050105A → T in ND. 1 PublicationCorresponds to variant dbSNP:rs104894875EnsemblClinVar.1
Natural variantiVAR_016051110C → G in ND. 1 PublicationCorresponds to variant dbSNP:rs104894876EnsemblClinVar.1
Natural variantiVAR_064020110C → R in ND. 1 Publication1
Natural variantiVAR_064021112G → E in ND. 1 Publication1
Natural variantiVAR_064023118A → D in ND. 1 Publication1
Natural variantiVAR_005503121 – 123Missing in ND. 1 Publication3
Natural variantiVAR_005501121R → Q in EVR2 and ND; reduced amount of protein in the extracellular matrix. 4 Publications1
Natural variantiVAR_005502121R → W in ND and EVR2. 2 PublicationsCorresponds to variant dbSNP:rs104894878EnsemblClinVar.1
Natural variantiVAR_005504123I → N in ND. 1 Publication1
Natural variantiVAR_064025126C → S in ND. 1 Publication1
Natural variantiVAR_064026128C → R in ND. 1 Publication1
Vitreoretinopathy, exudative 2 (EVR2)7 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder of the retinal vasculature characterized by an abrupt cessation of growth of peripheral capillaries, leading to an avascular peripheral retina. This may lead to compensatory retinal neovascularization, which is thought to be induced by hypoxia from the initial avascular insult. New vessels are prone to leakage and rupture causing exudates and bleeding, followed by scarring, retinal detachment and blindness. Clinical features can be highly variable, even within the same family. Patients with mild forms of the disease are asymptomatic, and their only disease related abnormality is an arc of avascular retina in the extreme temporal periphery.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06399818I → K in EVR2; the patient presented significant phenotypic heterogeneity between the two eyes. 1 Publication1
Natural variantiVAR_06399938R → C in ND and EVR2. 2 PublicationsCorresponds to variant dbSNP:rs758550101Ensembl.1
Natural variantiVAR_00548041R → K in EVR2. 1 Publication1
Natural variantiVAR_00548142H → R in EVR2. 2 PublicationsCorresponds to variant dbSNP:rs104894874EnsemblClinVar.1
Natural variantiVAR_06400554K → N in EVR2. 1 Publication1
Natural variantiVAR_00548358K → N in ND and EVR2. 2 Publications1
Natural variantiVAR_06400761L → I in EVR2. 1 Publication1
Natural variantiVAR_064017103L → V in EVR2. 1 Publication1
Natural variantiVAR_064022115R → L in EVR2. 1 Publication1
Natural variantiVAR_005499120Y → C in EVR2. 1 Publication1
Natural variantiVAR_005500121R → G in EVR2. 1
Natural variantiVAR_064024121R → L in EVR2. 1 PublicationCorresponds to variant dbSNP:rs137852220EnsemblClinVar.1
Natural variantiVAR_005501121R → Q in EVR2 and ND; reduced amount of protein in the extracellular matrix. 4 Publications1
Natural variantiVAR_005502121R → W in ND and EVR2. 2 PublicationsCorresponds to variant dbSNP:rs104894878EnsemblClinVar.1
Natural variantiVAR_005505124L → F in EVR2. 1 PublicationCorresponds to variant dbSNP:rs28933684EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi95C → A: Impairs oligomerization. 1 Publication1

Keywords - Diseasei

Deafness, Disease mutation

Organism-specific databases

DisGeNET

More...DisGeNETi		4693

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...GeneReviewsi		NDP

MalaCards human disease database

More...MalaCardsi		NDP
MIMi305390, phenotype
310600, phenotype

Open Targets

More...OpenTargetsi		ENSG00000124479

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		190, Coats disease
891, Familial exudative vitreoretinopathy
649, Norrie disease
91495, Persistent hyperplastic primary vitreous
90050, Retinopathy of prematurity

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA31481

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q00604, Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		NDP

Domain mapping of disease mutations (DMDM)

More...DMDMi		548342

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 24Sequence analysisAdd BLAST24
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000002179425 – 133NorrinAdd BLAST109

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi39 ↔ 961 Publication
Disulfide bondi55 ↔ 1101 Publication
Disulfide bondi65 ↔ 1261 Publication
Disulfide bondi69 ↔ 1281 Publication
Disulfide bondi93Interchain (with C-95)1 Publication
Disulfide bondi95Interchain (with C-93)1 Publication
Disulfide bondi131Interchain1 Publication

Keywords - PTMi

Disulfide bond

Proteomic databases

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q00604

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		Q00604

PeptideAtlas

More...PeptideAtlasi		Q00604

PRoteomics IDEntifications database

More...PRIDEi		Q00604

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		57861

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q00604

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		Q00604

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Expressed in the outer nuclear, inner nuclear and ganglion cell layers of the retina, and in fetal and adult brain.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000124479, Expressed in decidua and 153 other tissues

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q00604, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000124479, Tissue enhanced (ovary)

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Homodimer; disulfide-linked.

Component of a complex, at least composed of TSPAN12, FZD4, LRP5/6 and norrin (NDP). Binds FZD4 with high affinity.

Interacts with LRP6 (via Beta-propellers 1 and 2).

1 Publication

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		110773, 27 interactors

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		Q00604

Protein interaction database and analysis system

More...IntActi		Q00604, 4 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000367301

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q00604, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1133
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		Q00604

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini39 – 132CTCKPROSITE-ProRule annotationAdd BLAST94

Keywords - Domaini

Signal

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG1216, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00390000004304

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_153977_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q00604

Identification of Orthologs from Complete Genome Data

More...OMAi		DPGRCMR

Database of Orthologous Groups

More...OrthoDBi		1589857at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q00604

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		2.10.90.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR006207, Cys_knot_C
IPR029034, Cystine-knot_cytokine
IPR006208, Glyco_hormone_CN
IPR003064, Norrie_dis

The PANTHER Classification System

More...PANTHERi		PTHR28611, PTHR28611, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00007, Cys_knot, 1 hit

Protein Motif fingerprint database; a protein domain database

More...PRINTSi		PR01304, NORRIEDSEASE

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00041, CT, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS01185, CTCK_1, 1 hit
PS01225, CTCK_2, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequencei

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

Q00604-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MRKHVLAASF SMLSLLVIMG DTDSKTDSSF IMDSDPRRCM RHHYVDSISH 
        60         70         80         90        100
PLYKCSSKMV LLARCEGHCS QASRSEPLVS FSTVLKQPFR SSCHCCRPQT 
       110        120        130 
SKLKALRLRC SGGMRLTATY RYILSCHCEE CNS
Length:133
Mass (Da):15,044
Last modified:June 1, 1994 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iD219E8B7F957286A
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00547813L → R in ND. 1 PublicationCorresponds to variant dbSNP:rs104894879EnsemblClinVar.1
Natural variantiVAR_01604816L → P in ND. 1 Publication1
Natural variantiVAR_06399818I → K in EVR2; the patient presented significant phenotypic heterogeneity between the two eyes. 1 Publication1
Natural variantiVAR_03413723D → E. Corresponds to variant dbSNP:rs5952410EnsemblClinVar.1
Natural variantiVAR_06399938R → C in ND and EVR2. 2 PublicationsCorresponds to variant dbSNP:rs758550101Ensembl.1
Natural variantiVAR_00547939C → R in ND. 2 Publications1
Natural variantiVAR_00548041R → K in EVR2. 1 Publication1
Natural variantiVAR_06400041R → S in persistent fetal vasculature syndrome. 1 Publication1
Natural variantiVAR_00548142H → R in EVR2. 2 PublicationsCorresponds to variant dbSNP:rs104894874EnsemblClinVar.1
Natural variantiVAR_06400143H → Q in ND. 1 Publication1
Natural variantiVAR_06400243H → R in ND. 1 Publication1
Natural variantiVAR_00548244Y → C in ND. 2 PublicationsCorresponds to variant dbSNP:rs104894870EnsemblClinVar.1
Natural variantiVAR_06400345V → E in ND. 1 PublicationCorresponds to variant dbSNP:rs137852221EnsemblClinVar.1
Natural variantiVAR_06400445V → M in ND. 1 Publication1
Natural variantiVAR_06400554K → N in EVR2. 1 Publication1
Natural variantiVAR_06400655C → R in ND. 1 Publication1
Natural variantiVAR_00548358K → N in ND and EVR2. 2 Publications1
Natural variantiVAR_00548460V → E in ND; reduction of protein amount in the extracellular matrix. 2 PublicationsCorresponds to variant dbSNP:rs104894869EnsemblClinVar.1
Natural variantiVAR_00548561L → F in ND. 2 PublicationsCorresponds to variant dbSNP:rs104894880EnsemblClinVar.1
Natural variantiVAR_06400761L → I in EVR2. 1 Publication1
Natural variantiVAR_00548661L → P in ND. 1 Publication1
Natural variantiVAR_00548763A → D in ND. 1 Publication1
Natural variantiVAR_00549065C → W in ND. 1 Publication1
Natural variantiVAR_00548865C → Y in ND. 2 PublicationsCorresponds to variant dbSNP:rs1369490553Ensembl.1
Natural variantiVAR_06400867G → E in ND. 1 PublicationCorresponds to variant dbSNP:rs1460859456Ensembl.1
Natural variantiVAR_06400967G → R in ND. 1 Publication1
Natural variantiVAR_00548969C → S in ND. 1 PublicationCorresponds to variant dbSNP:rs104894872EnsemblClinVar.1
Natural variantiVAR_00549174R → C in ND. 3 PublicationsCorresponds to variant dbSNP:rs727504031EnsemblClinVar.1
Natural variantiVAR_00549275S → C in ND. 1 PublicationCorresponds to variant dbSNP:rs104894868EnsemblClinVar.1
Natural variantiVAR_01604975S → P in ND. 1 Publication1
Natural variantiVAR_06401089F → L in ND. 1 PublicationCorresponds to variant dbSNP:rs1057520333EnsemblClinVar.1
Natural variantiVAR_06401190R → C in ND. 1 PublicationCorresponds to variant dbSNP:rs1057518793EnsemblClinVar.1
Natural variantiVAR_00549490R → P in ND. 1 PublicationCorresponds to variant dbSNP:rs104894867EnsemblClinVar.1
Natural variantiVAR_06401292S → P in ND. 1 Publication1
Natural variantiVAR_00549594 – 96HCC → QCGL in ND. 3
Natural variantiVAR_06401395C → F in ND. 1 Publication1
Natural variantiVAR_06401495C → R in ND. 1 Publication1
Natural variantiVAR_00927596C → W in ND. 1 PublicationCorresponds to variant dbSNP:rs104894877EnsemblClinVar.1
Natural variantiVAR_00549696C → Y in ND. 3 PublicationsCorresponds to variant dbSNP:rs104894871EnsemblClinVar.1
Natural variantiVAR_06401597R → P in ND. 1 Publication1
Natural variantiVAR_06401698P → L in ND. 1 Publication1
Natural variantiVAR_005497101S → F in ND. 1 PublicationCorresponds to variant dbSNP:rs104894883EnsemblClinVar.1
Natural variantiVAR_064017103L → V in EVR2. 1 Publication1
Natural variantiVAR_064018104K → N in ND. 1 Publication1
Natural variantiVAR_005498104K → Q in ND. 1 Publication1
Natural variantiVAR_016050105A → T in ND. 1 PublicationCorresponds to variant dbSNP:rs104894875EnsemblClinVar.1
Natural variantiVAR_064019108L → P in retinopathy of prematurity. 1 Publication1
Natural variantiVAR_016051110C → G in ND. 1 PublicationCorresponds to variant dbSNP:rs104894876EnsemblClinVar.1
Natural variantiVAR_064020110C → R in ND. 1 Publication1
Natural variantiVAR_064021112G → E in ND. 1 Publication1
Natural variantiVAR_064022115R → L in EVR2. 1 Publication1
Natural variantiVAR_064023118A → D in ND. 1 Publication1
Natural variantiVAR_005499120Y → C in EVR2. 1 Publication1
Natural variantiVAR_005503121 – 123Missing in ND. 1 Publication3
Natural variantiVAR_005500121R → G in EVR2. 1
Natural variantiVAR_064024121R → L in EVR2. 1 PublicationCorresponds to variant dbSNP:rs137852220EnsemblClinVar.1
Natural variantiVAR_005501121R → Q in EVR2 and ND; reduced amount of protein in the extracellular matrix. 4 Publications1
Natural variantiVAR_005502121R → W in ND and EVR2. 2 PublicationsCorresponds to variant dbSNP:rs104894878EnsemblClinVar.1
Natural variantiVAR_005504123I → N in ND. 1 Publication1
Natural variantiVAR_005505124L → F in EVR2. 1 PublicationCorresponds to variant dbSNP:rs28933684EnsemblClinVar.1
Natural variantiVAR_064025126C → S in ND. 1 Publication1
Natural variantiVAR_064026128C → R in ND. 1 Publication1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
X65724 mRNA Translation: CAA46639.1
X65882 mRNA Translation: CAA46713.1
AL034370 Genomic DNA No translation available.
AK313409 mRNA Translation: BAG36203.1
BC029901 mRNA Translation: AAH29901.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS14262.1

Protein sequence database of the Protein Information Resource

More...PIRi		A57005

NCBI Reference Sequences

More...RefSeqi		NP_000257.1, NM_000266.3

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000642620; ENSP00000495972; ENSG00000124479
ENST00000647044; ENSP00000495811; ENSG00000124479

Database of genes from NCBI RefSeq genomes

More...GeneIDi		4693

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:4693

UCSC genome browser

More...UCSCi		uc004dga.5, human

Keywords - Coding sequence diversityi

Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross%5Freferences%5Fsection">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Mutations of the NDP gene

Retina International's Scientific Newsletter

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X65724 mRNA Translation: CAA46639.1
X65882 mRNA Translation: CAA46713.1
AL034370 Genomic DNA No translation available.
AK313409 mRNA Translation: BAG36203.1
BC029901 mRNA Translation: AAH29901.1
CCDSiCCDS14262.1
PIRiA57005
RefSeqiNP_000257.1, NM_000266.3

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4MY2X-ray2.40A30-133[»]
5BPUX-ray2.40A/B/C/D/E/F25-133[»]
5BQ8X-ray2.00A/B/C/D25-133[»]
5BQBX-ray2.30A/B/C/D25-133[»]
5BQCX-ray3.00A25-133[»]
5BQEX-ray2.30A/B25-133[»]
5CL1X-ray3.80A/B31-133[»]
SMRiQ00604
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi110773, 27 interactors
CORUMiQ00604
IntActiQ00604, 4 interactors
STRINGi9606.ENSP00000367301

PTM databases

iPTMnetiQ00604
PhosphoSitePlusiQ00604

Polymorphism and mutation databases

BioMutaiNDP
DMDMi548342

Proteomic databases

MassIVEiQ00604
PaxDbiQ00604
PeptideAtlasiQ00604
PRIDEiQ00604
ProteomicsDBi57861

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		514, 167 antibodies

The DNASU plasmid repository

More...DNASUi		4693

Genome annotation databases

EnsembliENST00000642620; ENSP00000495972; ENSG00000124479
ENST00000647044; ENSP00000495811; ENSG00000124479
GeneIDi4693
KEGGihsa:4693
UCSCiuc004dga.5, human

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		4693
DisGeNETi4693
EuPathDBiHostDB:ENSG00000124479.8

GeneCards: human genes, protein and diseases

More...GeneCardsi		NDP
GeneReviewsiNDP
HGNCiHGNC:7678, NDP
HPAiENSG00000124479, Tissue enhanced (ovary)
MalaCardsiNDP
MIMi300658, gene
305390, phenotype
310600, phenotype
neXtProtiNX_Q00604
OpenTargetsiENSG00000124479
Orphaneti190, Coats disease
891, Familial exudative vitreoretinopathy
649, Norrie disease
91495, Persistent hyperplastic primary vitreous
90050, Retinopathy of prematurity
PharmGKBiPA31481

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG1216, Eukaryota
GeneTreeiENSGT00390000004304
HOGENOMiCLU_153977_0_0_1
InParanoidiQ00604
OMAiDPGRCMR
OrthoDBi1589857at2759
PhylomeDBiQ00604

Enzyme and pathway databases

PathwayCommonsiQ00604
SIGNORiQ00604

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		4693, 3 hits in 501 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		NDP, human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		Norrin

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		4693
PharosiQ00604, Tbio

Protein Ontology

More...PROi		PR:Q00604
RNActiQ00604, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000124479, Expressed in decidua and 153 other tissues
GenevisibleiQ00604, HS

Family and domain databases

Gene3Di2.10.90.10, 1 hit
InterProiView protein in InterPro
IPR006207, Cys_knot_C
IPR029034, Cystine-knot_cytokine
IPR006208, Glyco_hormone_CN
IPR003064, Norrie_dis
PANTHERiPTHR28611, PTHR28611, 1 hit
PfamiView protein in Pfam
PF00007, Cys_knot, 1 hit
PRINTSiPR01304, NORRIEDSEASE
SMARTiView protein in SMART
SM00041, CT, 1 hit
PROSITEiView protein in PROSITE
PS01185, CTCK_1, 1 hit
PS01225, CTCK_2, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiNDP_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q00604
Secondary accession number(s): B2R8K6, Q5JYH5
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 1, 1994
Last sequence update: June 1, 1994
Last modified: August 12, 2020
This is version 179 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Reference proteome

Documents

  1. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  4. Human chromosome X
    Human chromosome X: entries, gene names and cross-references to MIM
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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